NORFOLK, Va. — A three-month-old Children’s Hospital of The King’s Daughters patient was the first in Virginia to receive a new gene therapy drug since the Food and Drug Administration approved it.
Kaeli Price of North Carolina was diagnosed by CHKD neurologist Crystal Proud with spinal muscular atrophy (SMA) in May.
Kaeli was only 8 weeks old at the time of the diagnosis.
SMA is a progressive neuromuscular disease that gradually wears down muscles to the point where children are unable to walk or breathe easily. Children with the most severe forms need ventilators to breathe and usually die in childhood.
This is the first gene therapy treatment for neuromuscular disease, and it’s made headlines across the globe because drug company Novartis priced it at $2.1 million a patient, setting a world price record.
On May 24, the FDA approved the new gene therapy drug, Zolgensma, which is used to treat the top genetic killer of babies.
Kaeli received the drug on June 20.
“My hope for Kaeli is that she’ll be able to sit and stand and walk and live a fruitful life,” Dr. Proud said. “It’s a life-changing drug that’s given us new hope and optimism we didn’t have before.”
Kaeli's parents, Kelli and Brandon Price of Belvidere, N.C. said they feel fortunate because the drug became available when it did and their insurance company agreed to cover the hefty cost for the drug.
“It’s hard to put into words how we feel,” said Kelli Price. “We feel like the timing was all God’s doing.”
Spinal muscular atrophy affects one in every 10,000 births. Dr. Proud has been involved in a statewide steering committee to recommend newborn screening for SMA in Virginia, so early intervention can provide the best development opportunities for these children.
Click here to learn more about CHKD's Spiral Muscular Atrophy Center.